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128207002: Giant axonal neuropathy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
206449013 Giant axonal neuropathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
732172013 Giant axonal neuropathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3777464012 An autosomal recessive condition characterised by progressive degeneration of the central and peripheral nervous system with enlargement of axons. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777465013 An autosomal recessive condition characterized by progressive degeneration of the central and peripheral nervous system with enlargement of axons. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4924291000005114 gigantisk aksonal neuropati da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) dansk modul


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Giant axonal neuropathy Is a Disorder of the central nervous system (disorder) false Inferred relationship Some
Giant axonal neuropathy Is a Axonal neuropathy true Inferred relationship Some
Giant axonal neuropathy Finding site Axon structure false Inferred relationship Some
Giant axonal neuropathy Finding site Nerve structure true Inferred relationship Some 1
Giant axonal neuropathy Is a Hereditary disorder of nervous system true Inferred relationship Some
Giant axonal neuropathy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Giant axonal neuropathy Finding site Axon structure true Inferred relationship Some 2
Giant axonal neuropathy Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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